Canonical Allele Identifier: CA2495877496

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47483121_47483122delinsAT , CM000664.2:g.47483121_47483122delinsAT	GRCh38
NC_000002.11:g.47710260_47710261delinsAT , CM000664.1:g.47710260_47710261delinsAT	GRCh37
NC_000002.10:g.47563764_47563765delinsAT	NCBI36
NG_007110.2:g.84998_84999delinsAT , LRG_218:g.84998_84999delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2250_2634+2251delinsAT	ENSP00000495641.2:n.2634+2250_2634+2251delinsAT
ENST00000233146.7:c.*172_*173delinsAT MANE Select	ENSP00000233146.2:n.*172_*173delinsAT
ENST00000543555.6:c.*172_*173delinsAT	ENSP00000442697.1:n.*172_*173delinsAT
ENST00000644092.1:c.*934+2250_*934+2251delinsAT	ENSP00000496351.1:n.*934+2250_*934+2251delinsAT
ENST00000644900.1:c.487+2250_487+2251delinsAT
ENST00000645339.1:c.2634+2250_2634+2251delinsAT	ENSP00000496441.1:n.2634+2250_2634+2251delinsAT
ENST00000645506.1:c.2634+2250_2634+2251delinsAT	ENSP00000495455.1:n.2634+2250_2634+2251delinsAT
ENST00000646415.1:c.2634+2250_2634+2251delinsAT	ENSP00000495543.1:n.2634+2250_2634+2251delinsAT
ENST00000233146.6:c.*172_*173delinsAT	ENSP00000233146.2:n.*172_*173delinsAT
ENST00000406134.5:c.2634+2250_2634+2251delinsAT	ENSP00000384199.1:n.2634+2250_2634+2251delinsAT
ENST00000461394.5:n.75+2250_75+2251delinsAT
ENST00000543555.5:c.*172_*173delinsAT	ENSP00000442697.1:n.*172_*173delinsAT
NM_000251.2:c.*172_*173delinsAT , LRG_218t1:c.*172_*173delinsAT	NP_000242.1:n.*172_*173delinsAT
NM_001258281.1:c.*172_*173delinsAT	NP_001245210.1:n.*172_*173delinsAT
XM_005264332.2:c.2634+2250_2634+2251delinsAT	XP_005264389.2:n.2634+2250_2634+2251delinsAT
XM_011532867.1:c.2634+2250_2634+2251delinsAT	XP_011531169.1:n.2634+2250_2634+2251delinsAT
XR_939685.1:n.2706+2250_2706+2251delinsAT
XM_005264332.4:c.2634+2250_2634+2251delinsAT	XP_005264389.2:n.2634+2250_2634+2251delinsAT
XM_011532867.2:c.2634+2250_2634+2251delinsAT	XP_011531169.1:n.2634+2250_2634+2251delinsAT
XR_001738747.2:n.2696+2250_2696+2251delinsAT
XR_939685.2:n.2696+2250_2696+2251delinsAT
NM_000251.3:c.*172_*173delinsAT MANE Select	NP_000242.1:n.*172_*173delinsAT